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201 results

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A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO. Dufke A, et al. Among authors: ossowski s. Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20. Prenat Diagn. 2022. PMID: 35574990
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Wambach JA, et al. Among authors: ossowski s. Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17. Hum Mutat. 2017. PMID: 28726266 Free PMC article.
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. Bosio M, et al. Among authors: ossowski s. Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31026367 Free PMC article.
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C. Sepahi I, et al. Among authors: ossowski s. BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0. BMC Cancer. 2019. PMID: 31395037 Free PMC article.
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Pogoda M, Hilke FJ, Lohmann E, Sturm M, Lenz F, Matthes J, Muyas F, Ossowski S, Hoischen A, Faust U, Sepahi I, Casadei N, Poths S, Riess O, Schroeder C, Grundmann K. Pogoda M, et al. Among authors: ossowski s. Front Neurol. 2019 Dec 18;10:1332. doi: 10.3389/fneur.2019.01332. eCollection 2019. Front Neurol. 2019. PMID: 31920950 Free PMC article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
201 results